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| DDG2P v3.12 | BBS12 | Achchuthan Shanmugasundram reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 19797195, 26082521, 17160889, 20827784; Phenotypes: BARDET-BIEDL SYNDROME TYPE 12, OMIM:615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS10 | Achchuthan Shanmugasundram reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 26762677, 20805367, 16582908; Phenotypes: BARDET-BIEDL SYNDROME TYPE 10, OMIM:615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS1 | Achchuthan Shanmugasundram reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143442, 12524598, 10577922, 10577921, 20177705, 12118255, 12837689; Phenotypes: BARDET-BIEDL SYNDROME TYPE 1, OMIM:209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BBS12 | Achchuthan Shanmugasundram Publications for gene: BBS12 were updated from to 19797195; 26082521; 17160889; 20827784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BBS10 | Achchuthan Shanmugasundram Publications for gene: BBS10 were updated from to 26762677; 20805367; 16582908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BBS1 | Achchuthan Shanmugasundram Publications for gene: BBS1 were updated from to 23143442; 12524598; 10577922; 10577921; 20177705; 12118255; 12837689 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.23 | BBS1 | Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS12 | Rebecca Foulger reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS10 | Rebecca Foulger reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS1 | Rebecca Foulger reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BBS12 |
Rebecca Foulger gene: BBS12 was added gene: BBS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12 209900 |
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| DDG2P v0.1 | BBS10 |
Rebecca Foulger gene: BBS10 was added gene: BBS10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10 209900 |
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| DDG2P v0.1 | BBS1 |
Rebecca Foulger gene: BBS1 was added gene: BBS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to BARDET-BIEDL SYNDROME TYPE 1 209900 |
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